DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Pendred's syndrome ×

Gene: SLC26A4 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

19786220

2009

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Two missense mutations in SLC26A4 gene: a molecular and functional study.

20128824

2010

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

15355436

2004

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.

16053392

2005

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.

23638949

2013

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

19287372

2009

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.

18274916

2008

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

19040761

2008

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.

17718863

2007

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

25991456

2015

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.

15689455

2005

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.

26752218

2016

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.

16950989

2006

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

24949729

2014

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification.

20583162

2010

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.

24341454

2013

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Resistance to hypertension and high Cl^- excretion in humans with SLC26A4 mutations.

27090054

2017

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

"Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and ""apparent"" thyroid dysgenesis."

24248179

2014

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Salicylate restores transport function and anion exchanger activity of missense pendrin mutations.

20826203

2010

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

12676893

2003

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

26969326

2016

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.

22412181

2012

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.

26397989

2015

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

1.000

GeneticVariation

CLINVAR

Here we have investigated the effect of nine PDS missense mutations on pendrin localization and iodide transport with the view to understanding their functional impact.

11932316

2002